Canonical Allele Identifier: CA198647
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 187899
ClinVar RCV Id: RCV000167619
dbSNP Id: rs786204031
gnomAD v4: 1-11791235-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11791235A>C , CM000663.2:g.11791235A>C GRCh38
NC_000001.10:g.11851292A>C , CM000663.1:g.11851292A>C GRCh37
NC_000001.9:g.11773879A>C NCBI36
NG_013351.1:g.19869T>G , LRG_726:g.19869T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1847T>G ENSP00000365770.1:p.Val616Gly
ENST00000376590.9:c.1724T>G MANE Select ENSP00000365775.3:p.Val575Gly
ENST00000376592.6:c.1724T>G ENSP00000365777.1:p.Val575Gly
ENST00000423400.7:c.1844T>G ENSP00000398908.3:p.Val615Gly
ENST00000641407.1:c.1724T>G ENSP00000493098.1:p.Val575Gly
ENST00000641446.1:c.*183T>G ENSP00000493262.1:n.*183T>G
ENST00000641747.1:c.*1236T>G ENSP00000493116.1:n.*1236T>G
ENST00000641759.1:n.2093T>G
ENST00000641805.1:n.2241T>G
ENST00000641820.1:c.989T>G ENSP00000492937.1:p.Val330Gly
ENST00000376583.7:c.1847T>G ENSP00000365767.3:p.Val616Gly
ENST00000376585.5:c.1847T>G ENSP00000365770.1:p.Val616Gly
ENST00000376590.7:c.1724T>G ENSP00000365775.3:p.Val575Gly
ENST00000376592.5:c.1724T>G ENSP00000365777.1:p.Val575Gly
NM_005957.4:c.1724T>G , LRG_726t1:c.1724T>G NP_005948.3:p.Val575Gly
XM_005263458.2:c.1847T>G XP_005263515.1:p.Val616Gly
XM_005263460.3:c.1724T>G XP_005263517.1:p.Val575Gly
XM_005263461.3:c.1724T>G XP_005263518.1:p.Val575Gly
XM_005263462.3:c.1724T>G XP_005263519.1:p.Val575Gly
XM_005263463.2:c.1478T>G XP_005263520.1:p.Val493Gly
XM_011541495.1:c.1844T>G XP_011539797.1:p.Val615Gly
XM_011541496.1:c.1847T>G XP_011539798.1:p.Val616Gly
NM_001330358.1:c.1847T>G NP_001317287.1:p.Val616Gly
XM_005263460.5:c.1724T>G XP_005263517.1:p.Val575Gly
XM_005263462.4:c.1724T>G XP_005263519.1:p.Val575Gly
XM_005263463.4:c.1478T>G XP_005263520.1:p.Val493Gly
XM_011541495.3:c.1844T>G XP_011539797.1:p.Val615Gly
XM_011541496.3:c.1847T>G XP_011539798.1:p.Val616Gly
XM_017001328.2:c.1847T>G XP_016856817.1:p.Val616Gly
XM_024447198.1:c.1478T>G XP_024302966.1:p.Val493Gly
XR_002956640.1:n.2825T>G
NM_005957.5:c.1724T>G MANE Select NP_005948.3:p.Val575Gly
NM_001330358.2:c.1847T>G NP_001317287.1:p.Val616Gly